Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.

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odontoleucodystrophie

SNOMEDCT-BE (disorder) / 722064003

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Syndrome with the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. This syndrome is likely to be inherited as an autosomal recessive condition.

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syndrome de Czeizel

SNOMEDCT-BE (disorder) / 719408007

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Others have searched : alport syndrome autosomal recessive fatal autosomal recessive syndrome

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'alport syndrome autosomal recessive'

Date index:2024-02-25 -

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Translation of "alport syndrome autosomal recessive " (English → French) :

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